The ataxia–pancytopenia (ATXPC) syndrome (OMIM #159550) was first described in 1978 by Dr. Frederik Li in a family with neurologic symptoms and pancytopenia of unknown origin, with some family members developing a myeloid neoplasm with monosomy 7 [13], Exclusion and linkage analyses combined with whole exome sequencing (WES) of an ATXPC kindred revealed mutations in the gene SAMD9L as the cause of this syndrome, and mutations in this gene were also found in the original family described by Dr. Li [15]. Here, SAMD9L is linked to Pancytopenia.